Sjögren-Larsson syndrome: Pediatric case report

Abstract

Sjogren-Larsson syndrome is characterized by congenital ichthyosis, mental retardation and spastic diplegia or quadriplegia. The primary defect in this syndrome is mutation of ALDH3A2 gen that codes for the fatty aldehyde dehydrogenase. Deficiency of this enzyme causes an accumulation of fatty alcohols and fatty aldehydes, leading to altered cell-membrane integrity. Skin, eyes, and the central nervous system are affected latter. The diagnosis is carried out through the cuantification of the enzyme activity. This case report describes the diagnosis of a clinical syndrome with symptoms of Sjogren-Larsson syndrome by the quantification of the enzymatic activity in a culture of fibroblasts. Also, taking into account the genealogy of the patient, the study was conducted in the parents and a brother with signs suggestive of Sjogren-Larsson syndrome.